Cataract
Gene: LRBA
LRBA (LPS responsive beige-like anchor protein)
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
No evidence cataract is a feature of the condition.Created: 15 Apr 2020, 1:55 a.m. | Last Modified: 15 Apr 2020, 1:55 a.m.
Panel Version: 0.111
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 606453
- Clinvar variants
- Variants in LRBA
- Penetrance
- None
- Panels with this gene
-
- Common Variable Immunodeficiency
- Disorders of immune dysregulation
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Fetal anomalies
- Prepair 1000+
- Monogenic Diabetes
- Autoimmune Lymphoproliferative Syndrome
- Mendeliome
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Cataract
- Interstitial Lung Disease
History Filter Activity
15 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: lrba has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LRBA was added gene: LRBA was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRBA was set to Unknown